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Page 1
Clinical aspects of the disorders of GABA metabolism in children.
Curr Opin Neurol. 2004 Apr;17(2):107-13. doi: 10.1097/00019052-200404000-00005.
Curr Opin Neurol. 2004.
PMID: 15021235
Review.
RECENT FINDINGS: The known clinical disorders of GABA metabolism are pyridoxine dependent epilepsy, GABA-transaminase deficiency, SSADH deficiency, and homocarnosinosis. Pyridoxine dependent epilepsy is diagnosed clinically but potentially more common presentations, with l …
RECENT FINDINGS: The known clinical disorders of GABA metabolism are pyridoxine dependent epilepsy, GABA-transaminase deficiency, SSADH defi …
Inherited disorders of GABA metabolism.
Jakobs C, Jaeken J, Gibson KM.
Jakobs C, et al.
J Inherit Metab Dis. 1993;16(4):704-15. doi: 10.1007/BF00711902.
J Inherit Metab Dis. 1993.
PMID: 8412016
Review.
glutamic acid decarboxylase deficiency) (> 50 patients); (2) GABA-transaminase deficiency (2 patients/1 family); (3) succinic semialdehyde dehydrogenase deficiency (32 patients/21 families); and (4) homocarnosinosis associated with serum carnosinase deficiency (3 patien …
glutamic acid decarboxylase deficiency) (> 50 patients); (2) GABA-transaminase deficiency (2 patients/1 family); (3) succinic semialdehyd …
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Carnosinase and homocarnosinosis.
Lenney JF.
Lenney JF.
J Oslo City Hosp. 1985 Feb-Mar;35(2-3):27-40.
J Oslo City Hosp. 1985.
PMID: 3891936
Review.
No abstract available.
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Carnosinase, diabetes mellitus and the potential relevance of carnosinase deficiency.
Peters V, Zschocke J, Schmitt CP.
Peters V, et al.
J Inherit Metab Dis. 2018 Jan;41(1):39-47. doi: 10.1007/s10545-017-0099-2. Epub 2017 Oct 13.
J Inherit Metab Dis. 2018.
PMID: 29027595
Review.
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Pivotal role of carnosine in the modulation of brain cells activity: Multimodal mechanism of action and therapeutic potential in neurodegenerative disorders.
Caruso G, Caraci F, Jolivet RB.
Caruso G, et al.
Prog Neurobiol. 2019 Apr;175:35-53. doi: 10.1016/j.pneurobio.2018.12.004. Epub 2018 Dec 26.
Prog Neurobiol. 2019.
PMID: 30593839
Review.
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[Serum carnosinase deficiency and homocarnosinosis].
Hamajima N, Wada Y.
Hamajima N, et al.
Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):252-4.
Ryoikibetsu Shokogun Shirizu. 1998.
PMID: 9590040
Review.
Japanese.
No abstract available.
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